Diastrophic dysplasia

Diastrophic dysplasia is an autosomal recessive dysplasia which affects cartilage and bone development. ('Diastrophism' is a general word referring to a twisting.) Diastrophic dysplasia is due to mutations in the SLC26A2 gene. Diastrophic dysplasia is an autosomal recessive dysplasia which affects cartilage and bone development. ('Diastrophism' is a general word referring to a twisting.) Diastrophic dysplasia is due to mutations in the SLC26A2 gene.